Canonical Allele Identifier: CA384403733

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734152T>A (hg19) ; chr12:g.40340350T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340350T>A , CM000674.2:g.40340350T>A	GRCh38
NC_000012.11:g.40734152T>A , CM000674.1:g.40734152T>A	GRCh37
NC_000012.10:g.39020419T>A	NCBI36
NG_011709.1:g.120340T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6005T>A MANE Select	ENSP00000298910.7:p.Leu2002His
ENST00000679360.1:c.*4914T>A	ENSP00000505368.1:n.*4914T>A
ENST00000679532.1:c.1779T>A
ENST00000680018.1:c.1450T>A	ENSP00000505347.1:n.1450T>A
ENST00000680422.1:c.1650T>A
ENST00000680425.1:c.1172T>A	ENSP00000506459.1:n.1172T>A
ENST00000680453.1:c.1462T>A
ENST00000680790.1:c.5750T>A	ENSP00000505335.1:p.Leu1917His
ENST00000681136.1:n.1989T>A
ENST00000681696.1:c.1688T>A	ENSP00000505871.1:p.Leu563His
ENST00000298910.11:c.6005T>A	ENSP00000298910.7:p.Leu2002His
ENST00000430804.5:c.3301T>A
ENST00000479187.5:n.2686T>A
NM_198578.3:c.6005T>A	NP_940980.3:p.Leu2002His
XM_005268629.2:c.6005T>A	XP_005268686.1:p.Leu2002His
XM_011537877.1:c.6005T>A	XP_011536179.1:p.Leu2002His
XM_011537878.1:c.6005T>A	XP_011536180.1:p.Leu2002His
XM_011537879.1:c.4802T>A	XP_011536181.1:p.Leu1601His
XM_005268629.4:c.6005T>A	XP_005268686.1:p.Leu2002His
XM_011537877.3:c.6005T>A	XP_011536179.1:p.Leu2002His
XM_017018787.1:c.2921T>A	XP_016874276.1:p.Leu974His
XM_017018788.2:c.2267T>A	XP_016874277.1:p.Leu756His
XM_024448833.1:c.4802T>A	XP_024304601.1:p.Leu1601His
NM_198578.4:c.6005T>A MANE Select	NP_940980.4:p.Leu2002His